Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients
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DOI: 10.3390/cimb46050252
Abstract: Osteogenesis imperfecta (OI) is a group of inherited disorders of connective tissue that cause significant deformities and fragility in bones. Most cases of OI are associated with pathogenic variants in collagen type I genes and… read more here.
Keywords: osteogenesis imperfecta; russian patients; six russian; genetics ... See more keywords